Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandBrachydactyly (D059327)
Parent Node:
expandHand Deformities, Congenital (D006228)
Parent Node:
expandSynostosis (D013580)
..Starting node
..expandSynostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)

       Child Nodes:



 Sister Nodes: 
..expandAntley-Bixler Syndrome Phenotype (D054882) Child2
..expandBanki Syndrome (C566228)
..expandCoronal synostosis, syndactyly and jejunal atresia (C536445)
..expandCraniosynostoses (D003398) Child64
..expandDer Kaloustian Mcintosh Silver syndrome (C538217)
..expandHumeroradial Multiple Synostosis Syndrome (C565509)
..expandHumeroradial Synostosis with Craniofacial Anomalies (C566888)
..expandJorgenson Lenz syndrome (C536292)
..expandMesomelia-synostoses syndrome (C537348)
..expandMULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..expandMultiple synostoses syndrome 2 (C537380)
..expandMultiple Synostoses Syndrome 3 (C567839)
..expandNOG-Related-Symphalangism Spectrum Disorder (C536943)
..expandPatella aplasia, coxa vara, tarsal synostosis (C536307)
..expandPrata Libéral Gonçalves syndrome (C538277)
..expandRadioulnar Synostosis (C562408)
..expandRadioulnar synostosis retinal pigment abnormalities (C536270)
..expandRadioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..expandRadioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male (C564557)
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..expandRamer Ladda syndrome (C535284)
..expandSpondylocarpotarsal synostosis (C535780)
..expandSymphalangism of Toes (C566101)
..expandSymphalangism with Multiple Anomalies of Hands and Feet (C566098)
..expandSyndactyly (D013576) Child69
..expandSynostoses, tarsal, carpal, and digital (C538156)
..expandSynostosis of Talus and Calcaneus with Short Stature (C566089)
..expandSynostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..expandTsukahara Syndrome (C566376)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10813
Name:Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
Definition:
Alternative IDs:
ParentIDs:MESH:D006228|MESH:D013580|MESH:D059327
TreeNumbers:C05.116.099.370.894/C566090 |C05.390.408/C566090 |C05.660.585.262/C566090 |C05.660.585.988.425/C566090 |C05.660.906/C566090 |C16.131.621.585.262/C566090 |C16.131.621.585.425/C566090 |C16.131.621.906/C566090
Synonyms:Brachydactyly with Joint Dysplasia |Liebenberg Syndrome
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C566090
MeSH: C566090
OMIM: 186550;

Genes: PITX1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:00012332-3 finger syndactyly
3 HP:0001191Abnormality of the carpal bones
4 HP:0001156Brachydactyly
5 HP:0002987Elbow flexion contracture
6 HP:0009183Joint contracture of the 5th finger
7 HP:0003016Metaphyseal widening
8 HP:0006190Radially deviated wrists
Disease Causing ClinVar Variants